Variant report

Variant	rs11968592
Chromosome Location	chr6:150327099-150327100
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF1	chr6:150326781-150327103	A549	lung:	n/a	n/a
2	USF1	chr6:150326155-150327192	ECC-1	luminal epithelium:	n/a	chr6:150326498-150326509 chr6:150326500-150326509 chr6:150326499-150326508 chr6:150326500-150326509 chr6:150326501-150326510 chr6:150326498-150326511 chr6:150326494-150326515
3	USF1	chr6:150326169-150327130	H1-hESC	embryonic stem cell:	n/a	chr6:150326498-150326509 chr6:150326500-150326509 chr6:150326499-150326508 chr6:150326500-150326509 chr6:150326501-150326510 chr6:150326498-150326511 chr6:150326494-150326515
4	CREB1	chr6:150326093-150327159	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr6:150325867-150327120	K562	blood:	n/a	chr6:150326745-150326755 chr6:150326500-150326509 chr6:150326500-150326509 chr6:150326500-150326509 chr6:150326954-150326963
6	MAZ	chr6:150325772-150327122	IMR90	lung:	n/a	chr6:150326745-150326755 chr6:150326500-150326509 chr6:150326500-150326509 chr6:150326500-150326509 chr6:150326954-150326963
7	JUND	chr6:150326208-150327179	K562	blood:	n/a	chr6:150327126-150327137 chr6:150327129-150327139 chr6:150327129-150327139 chr6:150327130-150327138 chr6:150327129-150327139 chr6:150327129-150327139
8	CBX3	chr6:150326784-150327232	K562	blood:	n/a	n/a
9	USF1	chr6:150326087-150327126	K562	blood:	n/a	chr6:150326498-150326509 chr6:150326500-150326509 chr6:150326499-150326508 chr6:150326500-150326509 chr6:150326501-150326510 chr6:150326498-150326511 chr6:150326494-150326515
10	RCOR1	chr6:150325861-150327203	K562	blood:	n/a	n/a
11	MAZ	chr6:150325815-150327152	K562	blood:	n/a	chr6:150326745-150326755 chr6:150326500-150326509 chr6:150326500-150326509 chr6:150326500-150326509 chr6:150326954-150326963
12	STAT1	chr6:150327070-150327126	GM12878	blood:	n/a	n/a
13	USF1	chr6:150325938-150327273	HCT-116	colon:	n/a	chr6:150326498-150326509 chr6:150326500-150326509 chr6:150326499-150326508 chr6:150326500-150326509 chr6:150326501-150326510 chr6:150326498-150326511 chr6:150326494-150326515
14	CTCF	chr6:150327060-150327210	HBMEC	blood vessel:	n/a	chr6:150327195-150327204 chr6:150327191-150327204 chr6:150327189-150327207 chr6:150327169-150327182 chr6:150327184-150327205
15	SMARCB1	chr6:150325672-150327375	Hela-S3	cervix:	n/a	chr6:150327130-150327139
16	MAX	chr6:150327007-150327207	Hela-S3	cervix:	n/a	n/a
17	USF2	chr6:150326307-150327169	Hela-S3	cervix:	n/a	chr6:150326499-150326510 chr6:150326500-150326509 chr6:150326499-150326508 chr6:150326500-150326509 chr6:150326501-150326510 chr6:150326498-150326511 chr6:150326494-150326515
18	USF1	chr6:150326226-150327155	ECC-1	luminal epithelium:	n/a	chr6:150326498-150326509 chr6:150326500-150326509 chr6:150326499-150326508 chr6:150326500-150326509 chr6:150326501-150326510 chr6:150326498-150326511 chr6:150326494-150326515
19	CREB1	chr6:150326128-150327245	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr6:150325738-150327152	Hela-S3	cervix:	n/a	n/a
21	USF2	chr6:150326228-150327102	H1-hESC	embryonic stem cell:	n/a	chr6:150326499-150326510 chr6:150326500-150326509 chr6:150326499-150326508 chr6:150326500-150326509 chr6:150326501-150326510 chr6:150326498-150326511 chr6:150326494-150326515
22	MAZ	chr6:150327073-150327217	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr6:150325572-150327377	K562	blood:	n/a	n/a
24	USF1	chr6:150326063-150327215	HCT-116	colon:	n/a	chr6:150326498-150326509 chr6:150326500-150326509 chr6:150326499-150326508 chr6:150326500-150326509 chr6:150326501-150326510 chr6:150326498-150326511 chr6:150326494-150326515
25	USF1	chr6:150326875-150327112	HepG2	liver:	n/a	n/a
26	NR2F2	chr6:150325588-150327409	K562	blood:	n/a	n/a
27	SRF	chr6:150325549-150327363	HCT-116	colon:	n/a	chr6:150326458-150326472 chr6:150326455-150326472 chr6:150326457-150326470 chr6:150326455-150326473
28	JUN	chr6:150325693-150327269	K562	blood:	n/a	chr6:150327126-150327137 chr6:150327129-150327139 chr6:150327129-150327139 chr6:150327130-150327138 chr6:150327129-150327139 chr6:150326060-150326069 chr6:150327129-150327139

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:150283785..150286352-chr6:150326807..150328312,2	MCF-7	breast:

Variant related genes	Relation type
RAET1K	TF binding region
ENSG00000111981	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12111470	0.97[ASN][1000 genomes]
rs12523689	1.00[EUR][1000 genomes]
rs2038772	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2050383	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs56723304	0.98[ASN][1000 genomes]
rs59880804	0.97[ASN][1000 genomes]
rs61289929	0.97[ASN][1000 genomes]
rs6922844	0.83[AFR][1000 genomes]
rs6930447	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73001603	0.81[AMR][1000 genomes]
rs73779751	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73779756	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886764	chr6:150114745-150393683	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv517022	chr6:150145001-150426272	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv970176	chr6:150319173-150343329	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv7375	chr6:150324114-150388625	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv3344440	chr6:150324131-150388650	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150325400-150327200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
2	chr6:150325600-150327200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
3	chr6:150325600-150327200	Active TSS	A549	lung
4	chr6:150325600-150327200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
5	chr6:150325600-150327400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr6:150325800-150327200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr6:150325800-150327200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr6:150325800-150327200	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr6:150325800-150327200	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
10	chr6:150325800-150327200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
11	chr6:150325800-150327200	Active TSS	HSMM	muscle
12	chr6:150325800-150328000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
13	chr6:150326600-150327200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
14	chr6:150326600-150327200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr6:150326600-150327200	Flanking Active TSS	Liver	Liver
16	chr6:150326600-150327200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
17	chr6:150326600-150327200	Flanking Active TSS	Dnd41	blood
18	chr6:150326600-150327200	Flanking Bivalent TSS/Enh	HepG2	liver
19	chr6:150326800-150327200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr6:150326800-150327200	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
21	chr6:150326800-150327200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
22	chr6:150326800-150327200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
23	chr6:150326800-150327200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
24	chr6:150326800-150327200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
25	chr6:150326800-150327200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr6:150326800-150327200	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
27	chr6:150326800-150327200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
28	chr6:150326800-150327200	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
29	chr6:150326800-150327200	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
30	chr6:150326800-150327200	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
31	chr6:150326800-150327200	Enhancers	Pancreas	Pancrea
32	chr6:150326800-150327200	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
33	chr6:150326800-150327200	Bivalent Enhancer	Spleen	Spleen
34	chr6:150326800-150327200	Flanking Active TSS	K562	blood
35	chr6:150326800-150327400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr6:150326800-150327400	Enhancers	Lung	lung
37	chr6:150327000-150327200	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
38	chr6:150327000-150327200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
39	chr6:150327000-150327200	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr6:150327000-150327200	Flanking Bivalent TSS/Enh	H9 Cell Line	embryonic stem cell
41	chr6:150327000-150327200	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr6:150327000-150327200	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr6:150327000-150327200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
44	chr6:150327000-150327200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
45	chr6:150327000-150327200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr6:150327000-150327200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
47	chr6:150327000-150327200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
48	chr6:150327000-150327200	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr6:150327000-150327200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
50	chr6:150327000-150327200	Flanking Active TSS	Primary T cells from cord blood	blood

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